Open Access
CC BY 4.0 · Aorta (Stamford) 2018; 06(01): 001-012
DOI: 10.1055/s-0038-1639610
State-of-the-Art Review
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Epigenetics in Ascending Thoracic Aortic Aneurysm and Dissection

Adeline Boileau
1   Cardiovascular Research Unit, Luxembourg Institute of Health, Luxembourg, Luxembourg
,
Mark E. Lindsay
2   Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts
,
Jean-Baptiste Michel
3   UMRS 1148, INSERM, Paris 7-Denis Diderot University, Hôpital Xavier Bichat, Paris, France
,
Yvan Devaux
1   Cardiovascular Research Unit, Luxembourg Institute of Health, Luxembourg, Luxembourg
› Author Affiliations

Funding A.B. is funded by the National Research Fund (grant # AFR 8832104). Y.D. is supported by the National Research Fund and the Ministry of Higher Education and Research of Luxembourg. M.E.L. is supported by the National Institutes of Health (grant #HL130113), and the Toomey Fund for Aortic Dissection Research. J.B.M. is funded by INSERM and Agence Nationale pour la Recherche GDPMs, NONAGES, and EU FP7: Fighting Aneurysmal Diseases.
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Publication History

Publication Date:
27 July 2018 (online)

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Abstract

Thoracic aortic aneurysm (TAA) is an asymptomatic and progressive dilatation of the thoracic aorta. Ascending aortic dissection (AAD) is an acute intraparietal tear, occurring or not on a pre-existing dilatation. AAD is a condition associated with a poor prognosis and a high mortality rate. TAA and AAD share common etiology as monogenic diseases linked to transforming growth factor β signaling pathway, extracellular matrix defect, or smooth muscle cell protein mutations. They feature a complex pathogenesis including loss of smooth muscle cells, altered phenotype, and extracellular matrix degradation in aortic media layer. A better knowledge of the mechanisms responsible for TAA progression and AAD occurrence is needed to improve healthcare, nowadays mainly consisting of aortic open surgery or endovascular replacement. Recent breakthrough discoveries allowed a deeper characterization of the mechanisms of gene regulation. Since alteration in gene expression has been linked to TAA and AAD, it is conceivable that a better knowledge of the causes of this alteration may lead to novel theranostic approaches. In this review article, the authors will focus on epigenetic regulation of gene expression, including the role of histone methylation and acetylation, deoxyribonucleic acid methylation, and noncoding ribonucleic acids in the pathogenesis of TAA and AAD. They will provide a translational perspective, presenting recent data that motivate the evaluation of the potential of epigenetics to diagnose TAA and prevent AAD.

On behalf of the Cardiolinc™ network (www.cardiolinc.org).